Immunity and Inflammation Theme, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, New South Wales, 2010, Australia.
St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
J Clin Immunol. 2020 Jul;40(5):763-766. doi: 10.1007/s10875-020-00787-6. Epub 2020 Jun 1.
The Clinical Immunogenomics Research Consortium Australasia (CIRCA) crowdsources expertise in medicine, genomics, data science, and fundamental biology to diagnose and treat patients with rare inborn errors of immunity. This distributed network model operates free of geographic borders and allows rapid progression through the full research/translation/clinical management pipeline, from initial gene variant discovery, through functional validation, and on to precision mechanism-based treatment of patients throughout Australia and New Zealand. The model is scalable and applicable to other rare diseases where clinical experience and scientific know-how are limited, and enables efficient delivery of genomics for all.
澳大利亚临床免疫基因组学研究联盟（CIRCA）汇聚了医学、基因组学、数据科学和基础生物学方面的专业知识，旨在诊断和治疗患有罕见遗传性免疫缺陷的患者。该分布式网络模型不受地理边界的限制，可快速推进整个研究/转化/临床管理流程，从最初的基因变异发现，到功能验证，再到对澳大利亚和新西兰各地患者进行基于精确机制的治疗。该模型具有可扩展性，适用于其他临床经验和科学知识有限的罕见疾病，能够为所有人高效提供基因组学服务。
